Cognitive outcomes in Susac syndrome: A 2-year neuropsychological follow-up study.

BACKGROUND AND PURPOSE: Susac syndrome (SuS) is a rare, autoimmune, neurological disease characterized by a clinical triad of branch retinal artery occlusion, sensorineural hearing loss and encephalopathy. Neuropsychological functioning in SuS is little researched and the prevalence, nature, and evolution over time of cognitive deficits in SuS remain unclear. This study aimed to better understand the long-term neuropsychological outcomes of patients with SuS. METHODS: Thirteen patients with SuS (mean [SD] age 39.5 [11.1] years) were enrolled at the Ghent University Hospital by their treating neurologist. The cognitive functioning and emotional well-being of each patient was evaluated by means of a thorough neuropsychological test battery at baseline and after 2 years. Follow-up testing after 2 years was performed in 11 patients (mean [SD] age 42.2 [11.5] years). RESULTS: Patients showed normal neuropsychological test results at a group level, both at baseline and follow-up testing. Significant improvements over time were found for information processing speed, verbal recognition, and semantic and phonological fluency. Individual test results showed interindividual variability at baseline, with most impairments being in attention, executive functioning and language, which improved after a 2-year period. In addition, patients reported significantly lower mental and physical well-being, both at baseline and follow-up testing. CONCLUSIONS: Our results suggest that neuropsychological dysfunction in SuS is limited at a group level and improves over time. Nonetheless, individual test results reveal interindividual variability, making cognitive screening essential. Furthermore, a high psycho-emotional burden of the disease was reported, for which screening and follow-up are necessary.

Risk Factors for Natural Hearing Evolution in Newborns With Congenital Cytomegalovirus Infection.

Importance: Congenital cytomegalovirus (cCMV) is the major cause of congenital nonhereditary sensorineural hearing loss in children. Currently, criteria to identify infants at increased risk for unfavorable hearing outcome are lacking. Objective: To identify risk factors associated with cCMV-related hearing improvement, hearing deterioration, and late-onset hearing loss. Design, Setting, and Participants: This multicenter cohort study included patients from 6 secondary and tertiary hospitals enrolled in the Flemish CMV registry (Belgium). Newborns with untreated cCMV infection with at least 4-year audiological follow-up were included. Patients who presented with other possible causes of sensorineural hearing loss were excluded. Data were collected for 15 years (January 1, 2007, to February 7, 2022) and analyzed from September 26, 2022, to January 16, 2023. Main Outcomes and Measures: Primary outcome was hearing evolution (per-ear analysis; described as stable hearing, improvement, or deterioration). The association of gestational characteristics, clinical findings, timing of seroconversion, viral load, and hearing status at birth with hearing evolution was investigated using effect sizes (Cramer V, odds ratio [OR], or Hedges g). Results: Of the 387 children, 205 of 385 with nonmissing data were male (53.2%), 113 (29.2%) had a symptomatic infection, and 274 (70.8%) had an asymptomatic infection. Every child was 4 years or older at final hearing evaluation. A total of 701 of 774 ears (90%) showed stable hearing (normal hearing or stable hearing loss since birth) over time. Late-onset hearing loss (normal hearing at birth followed by hearing loss) was present in 43 of 683 ears (6.3%). Among children with hearing loss present at birth, 24 of 34 ears (70.6%) had hearing deterioration, and 6 of 91 ears (6.6%) had hearing improvement. Prematurity was associated with a higher chance of hearing improvement (OR, 12.80; 95% CI, 2.03-80.68). Late-onset hearing loss was more prevalent in a first trimester infection (OR, 10.10; 95% CI, 2.90-34.48). None of the 104 ears of children with a third trimester seroconversion developed late-onset hearing loss. Conclusions and Relevance: Findings of this cohort study support that ongoing audiological follow-up for untreated children with congenital hearing loss is important, as the majority of patients had hearing deterioration. The timing of seroconversion was associated with the risk of developing late-onset hearing loss. These insights can aid in parental counseling, patient stratification, and follow-up. Future research should focus on the effect of treatment, the influence of determined risk factors, and the study of eventual new risk factors in patients at high risk to develop hearing loss.

Vestibular Follow-up Program for Congenital Cytomegalovirus Based on 6 Years of Longitudinal Data Collection.

OBJECTIVES: Congenital cytomegalovirus (cCMV), the leading nongenetic cause of pediatric sensorineural hearing loss, can also affect vestibular function. Literature findings suggest clinical presentation of vestibular loss in cCMV to be as variable as the hearing loss. Still, probably due to the considerable additional burden it entails for both patients and diagnostic centers, longitudinal vestibular follow-up in cCMV is not well-established in clinical practice. Therefore, this study aims to propose an evidence-based vestibular follow-up program with proper balance between its feasibility and sensitivity. DESIGN: In this longitudinal cohort study, 185 cCMV-patients (mean age 3.2 years, SD 1.6 years, range 0.5-6.7 years) were included. Vestibular follow-up data were obtained through lateral video head impulse test (vHIT) and cervical vestibular evoked myogenic potential (cVEMP) evaluations around the ages of 6 months, 1 year, and 2 years. Around 3 and 4.5 years of age, data from vertical vHIT and ocular vestibular evoked myogenic potentials (oVEMP) were also collected. RESULTS: At birth, 55.1% (102/185) of patients were asymptomatic and 44.9% (83/185) were symptomatic. The mean duration of follow-up for all patients was 20.8 (SD 16.3) months (mean number of follow-up assessments: 3.2, SD 1.5). Vestibular loss occurred at some point during follow-up in 16.8% (31/185) of all patients. Six percent (10/164) of patients with normal vestibular function at first assessment developed delayed-onset vestibular loss; 80.0% (8/10) of these within the first 2 years of life. Vestibular deterioration was reported both in patients who had been treated with postnatal antiviral therapy and untreated patients. At final evaluation, both the semicircular and the otolith system were impaired in the majority of vestibular-impaired ears (29/36, 80.6%). Dysfunctions limited to the semicircular system or the otolith system were reported in 4 (4/36, 11.1%) and 3 (3/36, 8.3%) ears, respectively. The occurrence of vestibular loss was highest in patients with first trimester seroconversion (16/59, 27.1%) or with an unknown timing of seroconversion (13/71, 18.3%), patients with sensorineural hearing loss (16/31, 51.6%), and patients with periventricular cysts on magnetic resonance imaging (MRI) (7/11, 63.6%). CONCLUSIONS: Longitudinal vestibular follow-up, most intensively during the first 2 years of life, is recommended in cCMV-patients with vestibular risk factors (first trimester or unknown timing of seroconversion; sensorineural hearing loss; periventricular cysts on MRI). If those risk factors can be ruled out, a single evaluation early in life (around 6 months of age) might be sufficient. Both semicircular and otolith system evaluation should be part of the follow-up program, as partial losses were reported.

Atypical clinical and novel radiological findings in Susac syndrome: Experience from a large monocentric cohort.

Susac syndrome (SuS) is a rare immune-mediated endotheliopathy that affects the brain, retina and inner ear and is characterised by the variable clinical triad of encephalopathy, visual and vestibulocochlear dysfunction. Here, we present clinical and paraclinical data of 19 SuS patients followed at Ghent University Hospital and highlight some atypical clinical and novel radiological findings. Our findings suggest that spinal involvement expands the clinical phenotype of SuS. We further introduce dark blood sequences as a more sensitive technique to detect radiological disease activity in SuS. Our data add to the current understanding of the diagnosis, monitoring and treatment of SuS.

Predicting Early Vestibular and Motor Function in Congenital Cytomegalovirus Infection.

OBJECTIVES: Congenital cytomegalovirus (cCMV) can affect vestibular function, which is an important cornerstone for early motor development. This study aims to identify risk factors for early vestibular dysfunction with severe repercussions on the motor outcome. METHODS: This prospective cohort study included 169 cCMV-patients with complete vestibular assessment (lateral video Head Impulse Test and cervical Vestibular Evoked Myogenic Potentials) before the age of 18 months (mean 8.9, standard deviation 3.27 months). Motor results using the Alberta Infant Motor Scale were collected in 152 of these patients. Logistic and linear regression models were applied to identify risk factors for the vestibular and motor outcomes, respectively. RESULTS: The odds of developing early vestibular dysfunction were 6 times higher in patients presenting with hearing loss at birth compared to those born with normal hearing (p = .002). Within the latter group, significant predictors for vestibular dysfunction were (delayed-onset) hearing impairment at the time of vestibular testing (p = .003) and the presence of periventricular cysts on magnetic resonance imaging (p = .005). Remarkably, none of the patients infected during the third trimester of pregnancy (n = 14) developed early vestibular dysfunction. On average, vestibular-impaired patients had a z-score on the Alberta Infant Motor Scale that was 1.17 points lower than patients without vestibular deficit (p < .001). CONCLUSION: Early vestibular loss can have a significant adverse effect on motor development. Hearing and cranial imaging findings could facilitate the widespread implementation of a (targeted) vestibular assessment approach in the cCMV-population. LEVEL OF EVIDENCE: 3 Laryngoscope, 133:1757-1765, 2023.

Vestibular Infant Screening-Flanders: What is the Most Appropriate Vestibular Screening Tool in Hearing-Impaired Children?

OBJECTIVES: As children with sensorineural hearing loss have an increased risk for vestibular impairment, the Vestibular Infant Screening-Flanders project implemented a vestibular screening by means of cervical vestibular evoked myogenic potentials (cVEMP) at the age of 6 months for each child with hearing loss in Flanders (Belgium). Given that vestibular deficits can affect the child's development, this vestibular screening should allow early detection and intervention. However, less is currently known about which screening tool would be the most ideal and how vestibular impairment can evolve. Therefore, this study aimed to determine the most appropriate tool to screen for vestibular deficits, to assess the necessity of vestibular follow-up, and to set clinical guidelines for vestibular screening in children with hearing loss. DESIGN: In total, 71 children with congenital or early-onset sensorineural hearing loss were enrolled (mean age at first appointment = 6.7 months). Follow-up was provided at 6 months, 1, 2, and 3 years of age. Below three years of age, the video Head Impulse Test (vHIT) of the horizontal semicircular canals (SCC), the cVEMP, and the rotatory test at 0.16, 0.04, and 0.01 Hz were applied. At 3 years of age, the vHIT of the vertical SCC and ocular vestibular evoked myogenic potentials (oVEMP) were added. To evaluate early motor development, the Alberta Infant Motor Scale (AIMS) results at 6 months and 1-year old were included. RESULTS: At 6 months of age, the highest success rate was obtained with the cVEMP (90.0%) compared to the vHIT (70.0%) and the rotatory test (34.3-72.9%). Overall, vestibular deficits were found in 20.0% of the children, consisting of 13.9% with both SCC and otolith deficits (bilateral: 9.3%, unilateral: 4.6%), and 6.1% with unilateral isolated SCC (4.6%) or otolith (1.5%) deficits. Thus, vestibular deficits would not have been detected in 4.6% of the children by only using the cVEMP, whereas 1.5% would have been missed when only using the vHIT. Although vestibular deficits were more frequently found in severe to profound hearing loss (28.6%), characteristics of vestibular function were highly dependent on the underlying etiology. The AIMS results showed significantly weaker early motor development in children with bilateral vestibular deficits ( p = 0.001), but could not differentiate children with bilateral normal vestibular function from those with unilateral vestibular deficits ( p > 0.05). Progressive or delayed-onset vestibular dysfunction was only found in a few cases (age range: 12-36 months), in which the hearing loss was mainly caused by congenital cytomegalovirus (cCMV). CONCLUSIONS: The cVEMP is the most feasible screening tool to assess vestibular function in 6-months-old children with hearing loss. Although the majority of children with vestibular deficits are detected with the cVEMP, the vHIT seems even more sensitive as isolated SCC deficits are associated with specific etiologies of hearing loss. As a result, the cVEMP is an appropriate vestibular screening tool, which is advised at least in severe to profound hearing loss, but certain etiologies require the addition of the vHIT (i.e., cCMV, meningitis, cochleovestibular anomalies with or without syndromic hearing loss).

Risk Factors for Hearing Loss at Birth in Newborns With Congenital Cytomegalovirus Infection.

Importance: With a prevalence between 0.2% and 6.1% of all live births, congenital cytomegalovirus (cCMV) infection is a major cause of congenital nonhereditary sensorineural hearing loss. Despite the large amount of research on cCMV-related hearing loss, it is still unclear which newborns are at risk of hearing loss. Objective: To identify independent risk factors for cCMV-related congenital hearing loss and predictors of hearing loss severity at birth. Design, Setting, and Participants: This cross-sectional study of newborns with cCMV infection used data included in the Flemish CMV registry that was collected from 6 secondary and tertiary hospitals in Flanders, Belgium, over 15 years (January 1, 2007, to February 7, 2022). Data were analyzed March 3 to October 19, 2022. Patients were included in the study after confirmed diagnosis of cCMV infection and known hearing status at birth. Patients who presented with other possible causes of sensorineural hearing loss were excluded. Main Outcomes and Measures: Primary outcome was hearing status at birth. Clinical, neurological, and laboratory findings along with the timing of seroconversion and blood viral load were separately considered as risk factors. Binary logistic regression was performed to identify independent risk factors for congenital hearing loss in newborns with cCMV. Effect sizes were measured using Hedges g, odds ratio, or Cramer V. Results: Of the 1033 newborns included in the study (553 of 1024 [54.0%] boys), 416 (40.3%) were diagnosed with symptomatic cCMV infection and 617 (59.7%) with asymptomatic cCMV infection. A total of 15.4% of the patients (n = 159) presented with congenital hearing loss; half of them (n = 80 [50.3%]) had isolated hearing loss. The regression model revealed 3 independent risk factors for congenital hearing loss: petechiae at birth (adjusted odds ratio [aOR], 6.7; 95% CI, 1.9-23.9), periventricular cysts on magnetic resonance imaging (MRI; aOR, 4.6; 95% CI, 1.5-14.1), and seroconversion in the first trimester (aOR, 3.1; 95% CI, 1.1-9.3). Lower viral loads were seen in patients with normal hearing compared with those with congenital hearing loss (median [IQR] viral load, 447.0 [39.3-2345.8] copies per milliliter of sample [copies/mL] vs 1349.5 [234.3-14 393.0] copies/mL; median difference, -397.0 [95% CI, -5058.0 to 174.0] copies/mL). Conclusions and Relevance: Findings of this cross-sectional study suggest that newborns with cCMV infection and petechiae at birth, periventricular cysts on MRI, or a seroconversion in the first trimester had a higher risk of congenital hearing loss. Clinicians may use these risk factors to counsel parents in the prenatal and postnatal periods about the risk of congenital hearing loss. Moreover, linking clinical features to hearing loss may provide new insights into the pathogenesis of cCMV-related hearing loss. The importance of viral load as a risk factor for congenital hearing loss remains unclear.

Long-term anatomic and functional outcome of pediatric myringoplasty in primary and revision cases.

OBJECTIVES: To evaluate the long-term anatomical and functional results of myringoplasty in a large cohort of children and analyse factors determining outcome of surgery. METHODS: A retrospective analysis of 469 cases of primary and revision pediatric myringoplasties conducted between 2003 and 2018 at the Ghent University Hospital was performed. Anatomical success was defined as an intact tympanic membrane postoperatively. Overall success was defined as an intact tympanic membrane, preservation or improvement of hearing and an ear free from otitis media with effusion, atelectasis, ear discharge and myringitis. The impact of different variables on outcome was investigated by univariate analysis. RESULTS: In primary cases, anatomical success was achieved in 96.8% and 94.3% at early respectively late evaluation (after 1 resp. 12 months). Overall success was achieved in 65.4% and 68.5% at early and late evaluation respectively. In revision cases, early anatomical and overall success were achieved in 96.8% and 53.8%, dropping to respectively 88.9% and 47.1% at late evaluation. In primary cases, presence of bilateral perforations was a significant predictor of a negative anatomical outcome. Further analysis of anatomical, audiological, and overall success rates in primary and revision cases could not withhold any significant predictors. CONCLUSION: Anatomical success rates of myringoplasty in children are high, in primary as well as revision surgery. When taking the functional status in account however, success rates are lower. The presence of a bilateral perforation predicts a worse outcome with higher anatomical failure rates. No other factors with significant predictive effect on outcome were identified.

Three Years of Vestibular Infant Screening in Infants With Sensorineural Hearing Loss.

OBJECTIVES: Although vestibular deficits are more prevalent in hearing-impaired children and can affect their development on many levels, a pediatric vestibular assessment is still uncommon in clinical practice. Since early detection may allow for timely intervention, this pioneer project has implemented a basic vestibular screening test for each six-month-old hearing-impaired infant in Flanders, Belgium. This study aims to report the vestibular screening results over a period of three years and to define the most important risk factors for abnormal vestibular screening results. METHODS: Cervical Vestibular Evoked Myogenic Potentials with bone-conduction were used as a vestibular screening tool in all reference centers affiliated to the Universal Newborn Hearing Screening Program in Flanders. From June 2018 until June 2021, 254 infants (mean age: 7.4 months, standard deviation: 2.4 months) with sensorineural hearing loss were included. RESULTS: Overall, abnormal vestibular screening results were found in 13.8% (35 of 254) of the infants. The most important group at risk for abnormal vestibular screening results were infants with unilateral or bilateral severe to profound sensorineural hearing loss (20.8%, 32 of 154) (P < .001, odds ratio = 9.16). Moreover, abnormal vestibular screening results were more prevalent in infants with hearing loss caused by meningitis (66.7%, 2 of 3), syndromes (28.6%, 8 of 28), congenital cytomegalovirus infection (20.0%, 8 of 40), and cochleovestibular anomalies (19.2%, 5 of 26). CONCLUSIONS: The vestibular screening results in infants with sensorineural hearing loss indicate the highest risk for vestibular deficits in severe to profound hearing loss, and certain underlying etiologies of hearing loss, such as meningitis, syndromes, congenital cytomegalovirus, and cochleovestibular anomalies.

Twelve years of neonatal hearing screening: audiological and etiological results.

PURPOSE: Most developed countries have implemented some form of universal newborn hearing screening program. Early identification and rehabilitation of congenital hearing loss is important in functional outcome, and the need to identify the cause of hearing impairment has become clear. We aimed to evaluate audiological and etiological outcomes in a large group of patients with failed neonatal hearing screening. METHODS: We performed a retrospective chart analysis of patients who were referred to our tertiary referral center after failing neonatal hearing screening during a 12-year period (2007-2019). Screening was based on automated auditory brainstem response (AABR) or a combined approach of AABR and auditory steady-state response (ASSR) with chirp stimulus. Extensive audiometric testing was performed to confirm and determine the type and degree of hearing loss. In case of permanent hearing loss, a standardized etiological protocol was followed to determine the cause. RESULTS: Of the 802 referred newborns, hearing loss was confirmed by diagnostic ABR in 78%. Main causes of hearing loss included otitis media with effusion (56%, higher in patients screened by AABR/ASSR compared to AABR), a genetic disorder (12%), congenital cytomegalovirus infection (cCMV, 5%) and atresia/stenosis of the external ear canal (5%). Of the patients with permanent hearing loss, 15% showed changes in hearing loss severity over time. CONCLUSION: In the majority of newborns referred after failing universal neonatal hearing screening, hearing loss could be confirmed. The leading cause was reversible hearing loss due to otitis media with effusion, but hearing loss proved permanent in about 35% of referred newborns, with genetics as predominant cause. Follow-up of congenital hearing loss patients is important as deterioration as well as improvement was observed over time.

Investigation of the urinary excretion of prednisolone and metabolites after nasal administration: Relevance to doping control.

Glucocorticosteroid use in sport is restricted to non-systemic (nasal/ophtamological/dermatological/intra-articular) use. Systemic use is prohibited because of strong inflammatory suppressing effects. Prednisolone is a GC proven to be very effective in the treatment of nasal congestions and allergic rhinitis and its therapeutic use is allowed. To establish normal urinary concentration ranges for nasally administered prednisolone, an excretion study was performed with Sofrasolone® (nasal-inhaler). Six volunteers were administered a high dose (4.5 mg prednisolone in four gifts over a 9-h period). Samples were analysed using a validated LC-MS/MS method monitoring prednisolone (PRED) and the metabolites prednisone (PREDON), 20ß-dihydroprednisolone (20ßPRED) and 20α-dihydroprednisolone (20αPRED) in the total fraction (glucuroconjugated and free). Maximum concentrations were 266, 500, 350 and 140 ng/ml for PRED, PREDON, 20ßPRED and 20αPRED, respectively. These results show that the current reporting limit of 30 ng/ml in urine can be easily exceeded after therapeutic use. Hence, to avoid false-positive findings related to nasal application, this limit should be increased. To investigate the degree of glucuronidation of PRED and its metabolites also the free fraction was investigated. This shows that PREDON has the highest glucuroconjugation (50%). PRED, 20ßPRED and 20αPRED only show less than 20% conjugation.

Congenital Unilateral Hearing Loss: Characteristics and Etiological Analysis in 121 Patients.

OBJECTIVE: To describe the characteristics and etiological analysis in patients with congenital unilateral hearing loss. STUDY DESIGN: Retrospective cohort analysis. SETTING: Tertiary referral center. PATIENTS: Children with permanent congenital unilateral hearing loss born between 2007 and 2018. Patients were referred after universal newborn hearing screening or by a colleague to confirm the diagnosis and perform etiological examinations. MAIN OUTCOME MEASURES: Hearing loss type, severity, and evolution linked with the results of etiological testing. RESULTS: In the 121 included children, aural atresia is the leading cause of congenital unilateral hearing loss (32%), followed by structural anomalies (19%) and cCMV (13%), whereas 24% remained idiopathic after etiological work-up. Severity is mainly moderately severe (33% with 56-70 dB hearing loss, majority aural atresia) or profound (31% with > 90 dB hearing loss, predominantly cochlear nerve deficiency). Syndromic features were present in 26%. Although discussed with all parents, only 26% of the children regularly used hearing amplification. CONCLUSIONS: Congenital conductive unilateral hearing loss is mainly caused by aural atresia, which proportion in congenital unilateral hearing loss proved higher than previously reported. Cochlear nerve deficiency and cCMV are the predominant etiologies of congenital unilateral sensorineural hearing loss. Etiological work-up in affected patients is mandatory as it might impact the approach, and syndromic features should be actively searched for.

Hearing Loss in Malignant Infantile Osteopetrosis: A Case-Based Review.

Osteopetrosis, or marble bone disease, is a rare genetic disease of bone resorption. It includes a clinically heterogeneous group of conditions that are characterized by increased bone density on radiographs due to a defect in osteoclasts. A most common feature of osteopetrosis of the temporal bone is hearing impairment. This case-based review describes the potential otologic and hearing manifestations of malignant infantile osteopetrosis. The hearing loss can be conductive, sensorineural, late-onset or relapsing. Once the diagnosis is made, referral to an ENT physician for hearing evaluation is indicated. Although otitis media with effusion is the most frequent cause of conductive hearing loss with autosomal recessive osteopetrotic patients, audiometry after tympanostomy tube placement to check for additional causes of hearing loss is highly recommended. As otological manifestations may worsen over time, accurate and regular follow-up by audiometry is necessary. According to our knowledge, this is the first case report in the literature of dehiscent jugular bulb in a patient with osteopetrosis.

Vestibular Function in Children With a Congenital Cytomegalovirus Infection: 3 Years of Follow-Up.

OBJECTIVES: Congenital cytomegalovirus (cCMV) infection is the most common nongenetic cause of sensorineural hearing loss in children. Due to the close anatomical relationship between the auditory and the vestibular sensory organs, cCMV can also be an important cause of vestibular loss. However, the prevalence and nature of cCMV-induced vestibular impairment is still underexplored. The aim of this study was to investigate the occurrence and characteristics of vestibular loss in a large group of cCMV-infected children, representative of the overall cCMV-population. DESIGN: Ninety-three children (41 boys, 52 girls) with a confirmed diagnosis of cCMV were enrolled in this prospective longitudinal study. They were born at the Ghent University Hospital or referred from another hospital for multidisciplinary follow-up in the context of cCMV. The test protocol consisted of regular vestibular follow-up around the ages of 6 months, 1 year, 2 years, and 3 years with the video Head Impulse Test, the rotatory test, and the cervical Vestibular Evoked Myogenic Potential test. RESULTS: On average, the 93 patients (52 asymptomatic, 41 symptomatic) were followed for 10.2 months (SD: 10.1 mo) and had 2.2 examinations (SD: 1.1). Seventeen (18%) patients had sensorineural hearing loss (7 unilateral, 10 bilateral). Vestibular loss was detected in 13 (14%) patients (7 unilateral, 6 bilateral). There was a significant association between the occurrence of hearing loss and the presence of vestibular loss (p < 0.001), with 59% (10/17) vestibular losses in the group of hearing-impaired children compared to 4% (3/76) in the group of normal-hearing subjects. In the majority of the cases with a vestibular dysfunction (85%, 11/13), both the semicircular canal system and the otolith system were affected. The remaining subjects (15%, 2/13) had an isolated semicircular canal dysfunction. Sixty-one patients already had at least one follow-up examination. Deterioration of the vestibular function was detected in 6 of them (10%, 6/61). CONCLUSIONS: cCMV can impair not only the auditory but also the vestibular function. Similar to the hearing loss, vestibular loss in cCMV can be highly variable. It can be unilateral or bilateral, limited or extensive, stable or progressive, and early or delayed in onset. As the vestibular function can deteriorate over time and even normal-hearing subjects can be affected, vestibular evaluation should be part of the standard otolaryngology follow-up in all children with cCMV.

Congenital CMV-Associated Hearing Loss: Can Brain Imaging Predict Hearing Outcome?

OBJECTIVES: Congenital cytomegalovirus (cCMV) infection is the leading cause of nonhereditary sensorineural hearing loss in childhood and is also associated with CNS abnormalities. The main objective is to investigate the prognostic value of neonatal cranial ultrasound (cUS) and cranial magnetic resonance imaging (cMRI) in predicting long-term hearing outcome in a large cohort of cCMV-infected symptomatic and asymptomatic patients. DESIGN: Data were prospectively collected from a multicentre Flemish registry of children with cCMV infection born between 2007 and 2016. Neonatal cUS and cMRI scans were examined for lesions related to cCMV infection. Audiometric results at different time points were analyzed. The imaging and audiometric results were linked and diagnostic values of cUS and cMRI were calculated for the different hearing outcomes. RESULTS: We were able to include 411 cCMV patients, of whom 40% was considered symptomatic at birth. Cranial ultrasound abnormalities associated with cCMV infection were found in 76 children (22.2% of the cUS scans), whereas cMRI revealed abnormalities in 74 patients (26.9% of the cMRI scans). A significant relation could be found between the presence of cUS or cMRI abnormalities and hearing loss at baseline and last follow-up. Cranial ultrasound and cMRI findings were not significantly correlated with the development of delayed-onset hearing loss. Specificity and sensitivity of an abnormal cUS to predict hearing loss at final follow-up were 84% and 43%, respectively compared with 78% and 39% for cMRI. Normal cUS and cMRI findings have a negative predictive value of 91% and 92%, respectively, for the development of delayed-onset hearing loss. CONCLUSIONS: Neuroimaging evidence of CNS involvement in the neonatal period is associated with the presence of hearing loss in children with a cCMV infection. Imaging abnormalities are not predictive for the development of delayed-onset hearing loss.

The impact of cleft lip and/or palate on parental quality of life: A pilot study.

BACKGROUND: Cleft lip and/or palate (CL/CP/CLP) is one of the most common congenital anomalies. Children may suffer from a variety of health problems including difficulties with feeding and speech, middle ear problems, hearing loss and associated psychosocial concerns. The extent of impact of this disorder on the parents, however, has not yet been thoroughly evaluated. This pilot study was performed to evaluate the impact of having a child with CL/CP/CLP on the parents' quality of life (QoL) and family functioning and to compare between cleft subgroups. METHODS: Forty-five parents with children aged 6 months to 6 years with CL/CP/CLP, followed by the multidisciplinary orofacial cleft team of Ghent University Hospital, completed following standardized questionnaires: Impact on Family Scale (IOFS), Family Impact Scale (FIS) and Care-Related Quality of Life Instrument (CarerQoL). Subgroups were compared with diverse unpaired statistical tests. RESULTS: Younger children (6m-2y) with CL/CP/CLP entail more impact on parental QoL compared to children aged 2-4y old (p=0.04, ε²=0.15/p=0.02, ε²=0.17/p=0.02, ε²=0.17). Families from children with a syndromic cleft also encounter more impact (p=0.04, r=0.32 /p=0.01, r=0.37 /p=0.008, r=0.40/p=0.003, r=0.45). Prenatal orofacial cleft diagnosis is associated with a higher reporting of family conflicts (p=0.04, r=0.32). In case of non-syndromic clefts, families having children with CLP report more family conflicts compared to CL or CP (p=0.02, ε²=0.46). Parental education and number of children within the household showed no significant impact on parental QoL. CONCLUSION: This cross-sectional study confirms that having a child with CL/CP/CLP impacts the parental QoL. This study was performed as a pilot-study for larger multicentre studies, future development of effective screening tools and identification of subgroups at risk. Long-term multidisciplinary follow-up should involve family-centred support.

Ear- and hearing-related impact on quality of life in children with cleft palate: Development and pretest of a health-related quality of life (HRQOL) instrument.

OBJECTIVES: To investigate to what extent middle ear problems and associated hearing loss affect quality of life (QoL) of children born with a cleft palate. METHODS: Fifty-five children aged between 6 and 18 years, born with non-syndromic cleft palate ±â€¯cleft lip (CP/L) were included. A new health-related quality of life (HRQOL) questionnaire was generated with consideration of the following domains of QoL: communication, hearing loss, physical symptoms, limitation of activities and socio-emotional impact. RESULTS: Major psychosocial problems were not reported in the majority of children as a result of their ear and hearing problems. However, according to their parents, 2 out of 3 children, had difficulty speaking clearly and understandably. These communication problems led to behavioural problems and social isolation in 1 out of 5 children. Scholastic achievement was negatively influenced by two factors: hearing loss and sleep disturbance due to ear problems. CONCLUSIONS: To our knowledge this is the first study to quantitatively measure the ear- and hearing-related impact on QoL in children born with CP/L. Large-scale, multicentre studies are needed to further research and expand on the findings of this pilot study.

Correction to: Long-term hearing results of stapedotomy: analysis of factors affecting outcome.

The given and family names of all the co-authors are incorrect in the published article. The correct names should read as follows.

Long-term hearing results of stapedotomy: analysis of factors affecting outcome.

OBJECTIVE: To evaluate long-term hearing results of stapedotomy and analyze the influence of patient-, disease-, and procedure-related variables. STUDY DESIGN: Retrospective case series. SETTING: Tertiary referral center. PATIENTS: 230 ears (202 patients, 10-74 years) underwent stapedotomy for otosclerosis between January 2008 and August 2014. All cases had early postoperative follow-up (4 weeks post-surgery) and 181 cases had late postoperative follow-up (≥ 1 year, average 32.5 months). INTERVENTION: Stapedotomy procedure for otosclerosis. MAIN OUTCOME MEASURES: Hearing outcome using conventional audiometry. The primary outcome parameter was the postoperative air-bone gap pure-tone average. Postoperative air-bone gap ≤ 10 dB was defined as surgical success. Preoperative, early postoperative and late postoperative hearing results were compared. Influence of patient- and procedure-related variables on hearing outcome was evaluated by logistic regression analysis. RESULTS: The postoperative air-bone gap was 10 dB or less in 77.0% of cases early post-surgery and in 70.7% of cases in long-term follow-up. Air-bone gap closure within 20 dB was obtained in 95.7 and 92.3%, respectively. Logistic regression analysis demonstrated that a larger preoperative air-bone gap (p = 0.041) and positive family history of otosclerosis (p = 0.044) were predictive for less surgical success early postoperatively, but not on the long term. Age, gender, primary versus revision surgery, presence of preoperative tinnitus and preoperative vertigo did not independently and significantly influence postoperative air-bone gap closure. CONCLUSION: Our series confirms excellent hearing results achieved in stapedotomy surgery, also in long-term follow-up. On the long-term no patient-, disease-, or procedure-related variables were identified as predictors of surgical success.

Comparison of the Motor Performance and Vestibular Function in Infants with a Congenital Cytomegalovirus Infection or a Connexin 26 Mutation: A Preliminary Study.

OBJECTIVES: Hearing-impaired children are at risk for vestibular damage and delayed motor development. Two major causes of congenital hearing loss are cytomegalovirus (CMV) infection and connexin (Cx) 26 mutations. Comparison of the motor performance and vestibular function between these specific groups is still underexplored. The objective of this study was to investigate the impact of congenital (c)CMV and Cx26 on the motor performance and vestibular function in 6 months old infants. DESIGN: Forty children (mean age 6.7 months; range 4.8 to 8.9 months) participated in this cross-sectional design and were recruited from the Flemish CMV registry. They were divided into five age-matched groups: normal-hearing control, asymptomatic cCMV, normal-hearing symptomatic cCMV, hearing-impaired symptomatic cCMV, and hearing-impaired Cx26. Children were examined with the Peabody Developmental Motor Scales-2 and cervical vestibular-evoked myogenic potential (cVEMP) test. RESULTS: Symptomatic hearing-impaired cCMV children demonstrated a significantly lower gross motor performance compared with the control group (p = 0.005), the asymptomatic cCMV group (p = 0.034), and the Cx26 group (0.016). In this symptomatic hearing-impaired cCMV group, 4 out of 8 children had absent cVEMP responses that were related to the weakest gross motor performance. The Cx26 children showed no significant delay in motor development compared with the control children and none of these children had absent cVEMP responses. CONCLUSIONS: The weakest gross motor performance was found in symptomatic hearing-impaired cCMV-infected children with absent cVEMP responses. These results suggest that abnormal saccular responses are a major factor for this delayed motor development, although more work is needed including comprehensive vestibular function testing to verify this.